ArticleEuropean journal of human genetics : EJHG2012
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
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- A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker's Voice.Entropy (Basel, Switzerland) · 2023Article
- Transcriptomics unravels molecular players shaping dorsal lip hypertrophy in the vacuum cleaner cichlid, Gnathochromis permaxillaris.BMC genomics · 2021Article
- Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia.Pediatric cardiology · 2020Article
- Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Molecular cytogenetics · 2018Article
- Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.The Journal of clinical endocrinology and metabolism · 2017Article
- Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.American journal of human genetics · 2017Article
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.American journal of human genetics · 2017Article
- Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion EncompassingCase reports in genetics · 2017Article
- Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.Molecular syndromology · 2015Article
- Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.European journal of human genetics : EJHG · 2015Article
- A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome.Oncoscience · 2015Article
- Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.Journal of applied genetics · 2014Article
- Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.The Journal of clinical endocrinology and metabolism · 2014Article
- Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.Molecular cytogenetics · 2014Article
- Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.PloS one · 2014Article
- Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.PLoS genetics · 2013Article
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Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
Abstract
Although microdeletions of the long arm of chromosome 17 are being reported with increasing frequency, deletions of chromosome band 17q24.2 are rare. Here we report four patients with a microdeletion encompassing chromosome band 17q24.2 with a smallest region of overlap of 713 kb containing five Refseq genes and one miRNA. The patients share the phenotypic characteristics, such as intellectual disability (4/4), speech delay (4/4), truncal obesity (4/4), seizures (2/4), hearing loss (3/4) and a particular facial gestalt. Hallucinations and mood swings were also noted in two patients. The PRKCA gene is a very interesting candidate gene for many of the observed phenotypic features, as this gene plays an important role in many cellular processes. Deletion of this gene might explain the observed truncal obesity and could also account for the hallucinations and mood swings seen in two patients, whereas deletion of a CACNG gene cluster might be responsible for the seizures observed in two patients. In one of the patients, the PRKAR1A gene responsible for Carney Complex and the KCNJ2 gene causal for Andersen syndrome are deleted. This is the first report of a patient with a whole gene deletion of the KCNJ2 gene.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.